title: Utility of the multivariate approach in predicting β-thalassemia intermedia or β-thalassemia major types In Iranian patients.
abstract: Recently, five genetic modifiers [β-globin mutations, coinheritance of α-thalassemia (α-thal), XmnI polymorphism and single nucleotide polymorphisms (SNPs) in the BCL11A and HBS1L-MYB loci] were used to predict the β-thal major (β-TM) or β-thal intermedia (β-TI) types in 106 French patients with 83.2% accuracy. The dichotomous grouping was based on the age when the patient received his/her first transfusion (4 years). Here, a similar study was conducted in a cohort of 306 Iranian β-thal patients having distinct β-globin mutations and minor allele frequencies of key SNPs in these loci. Multivariate regression analyses and a simple scoring system were used to predict the β-TM/β-TI types using three scenarios: 1) when considering only the severe β-TM and the mild β-TI cases, 2) using clinical parameters for β-thal typing, and 3) using age at first transfusion as the basis for classification. Using these scenarios, the β-thal types could be correctly predicted in 77.6, 75.5 and 68.0% of cases, respectively.
authors.affiliation: Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran. mbbanan@yahoo.com
authors.forename: Mehdi
authors.initials: M
authors.lastname: Banan
authors.forename: Hadi
authors.initials: H
authors.lastname: Bayat
authors.forename: Pegah
authors.initials: P
authors.lastname: Namdar-Aligoodarzi
authors.forename: Azita
authors.initials: A
authors.lastname: Azarkeivan
authors.forename: Koorosh
authors.initials: K
authors.lastname: Kamali
authors.forename: Parvaneh
authors.initials: P
authors.lastname: Daneshmand
authors.forename: Behzad
authors.initials: B
authors.lastname: Zaker-Kandjani
authors.forename: Hossein
authors.initials: H
authors.lastname: Najmabadi
mesh_terms: D000328:Adult; D001665:Binding Sites / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics; D015331:Cohort Studies; D021901:DNA, Intergenic / Q000235:genetics; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D005260:Female; D019204:GTP-Binding Proteins / Q000235:genetics; D005787:Gene Frequency; D005838:Genotype; D018840:HSP70 Heat-Shock Proteins / Q000235:genetics; D006801:Humans; D007492:Iran; D008297:Male; D015999:Multivariate Analysis; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics; D010445:Peptide Elongation Factors / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D011379:Prognosis; D020598:Proto-Oncogene Proteins c-myb / Q000235:genetics; D012044:Regression Analysis; D012097:Repressor Proteins; D012680:Sensitivity and Specificity; D055815:Young Adult; D055544:beta-Globins / Q000235:genetics; D017086:beta-Thalassemia / Q000145:classification / Q000175:diagnosis* / Q000235:genetics*
chemical_list: C486563:BCL11A protein, human; D002352:Carrier Proteins; D021901:DNA, Intergenic; D018840:HSP70 Heat-Shock Proteins; D009687:Nuclear Proteins; D010445:Peptide Elongation Factors; D020598:Proto-Oncogene Proteins c-myb; D012097:Repressor Proteins; D055544:beta-Globins; C028649:endodeoxyribonuclease XmnI; D015252:Deoxyribonucleases, Type II Site-Specific; D019204:GTP-Binding Proteins; C000628258:HBS1L protein, human